0.1.0 - ci-build

This page is part of the MatchSync Implementation Guide (v0.1.0: Release Draft) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

ValueSet: NMDP Disease Value Set (Experimental)

Official URL: http://fhir.nmdp.org/ig/matchsync/ValueSet/nmdp-disease-codes Version: 0.1.0
Active as of 2023-05-09 Computable Name: NMDPDiseaseVS

NMDP disease codes

References

Logical Definition (CLD)

 

Expansion

This value set contains 100 concepts

Expansion based on NMDP Disease Code System v0.1.0 (CodeSystem)

CodeSystemDisplay
  ABLhttp://terminology.nmdp.org/codesystem/diseaseACUTE BILINEAGE LEUKEMIA
  AISAhttp://terminology.nmdp.org/codesystem/diseaseACQ IDIOPATH SIDERBLASTIC ANEM
  ALDhttp://terminology.nmdp.org/codesystem/diseaseADRENOLEUKODYSTROPHY
  ALLhttp://terminology.nmdp.org/codesystem/diseaseACUTE LYMPHOBLASTIC LEUKEMIA
  AMCLhttp://terminology.nmdp.org/codesystem/diseaseACUTE MAST CELL LEUKEMIA
  AMEGCThttp://terminology.nmdp.org/codesystem/diseaseAMEGAKARYOCY/CONGENTIAL THROM
  AMLhttp://terminology.nmdp.org/codesystem/diseaseACUTE MYELOGENOUS LEUKEMIA
  ASPGLhttp://terminology.nmdp.org/codesystem/diseaseASPARTYL GLUCOSAMINIDASE
  AThttp://terminology.nmdp.org/codesystem/diseaseATAXIA-TELANGIECTASIA
  AULhttp://terminology.nmdp.org/codesystem/diseaseACUTE UNDIFFERENTIATED LEUK-MO
  BGLUDhttp://terminology.nmdp.org/codesystem/diseaseBETA-GLUCURONIDASE DEFICIENCY
  BLSYNDhttp://terminology.nmdp.org/codesystem/diseaseBARE LYMPHOCYTE SYNDROME
  BRCAhttp://terminology.nmdp.org/codesystem/diseaseBREAST CANCER
  BTHALhttp://terminology.nmdp.org/codesystem/diseaseBETA THALASSEMIA MAJOR
  C-HHYPhttp://terminology.nmdp.org/codesystem/diseaseCARTILAGE-HAIR HYPOPLASIA
  CGDhttp://terminology.nmdp.org/codesystem/diseaseCHRONIC GRANULOMATOUS DISEASE
  CIDhttp://terminology.nmdp.org/codesystem/diseaseCOMBINED IMMUNODEFICIENCY
  CLLhttp://terminology.nmdp.org/codesystem/diseaseCHRONIC LYMPHOCYTIC LEUKEMIA
  CMLhttp://terminology.nmdp.org/codesystem/diseaseCHRONIC MYELOGENOUS LEUKEMIA
  CMMLhttp://terminology.nmdp.org/codesystem/diseaseCHRONIC MYELOMONOCYTIC LEUK
  CNSCAhttp://terminology.nmdp.org/codesystem/diseaseCENTRAL NERVOUS SYSTEM TUMORS
  DIGRGEhttp://terminology.nmdp.org/codesystem/diseaseDI GEORGE SYNDROME
  ETChttp://terminology.nmdp.org/codesystem/diseaseESSENTIAL THROMOBOCYTHEMIA
  EWINGShttp://terminology.nmdp.org/codesystem/diseaseEWINGS SARCOMA
  FAhttp://terminology.nmdp.org/codesystem/diseaseFANCONI ANEMIA
  FELhttp://terminology.nmdp.org/codesystem/diseaseFAMILIAL ERYTHROPHAGOCYTIC
  FUCOSIhttp://terminology.nmdp.org/codesystem/diseaseFUCOSIDOSIS
  GAUCHRhttp://terminology.nmdp.org/codesystem/diseaseGAUCHER'S DISEASE
  GLTROMhttp://terminology.nmdp.org/codesystem/diseaseGLANZMANNS THROMBASTHENIA
  GLUCSThttp://terminology.nmdp.org/codesystem/diseaseGLUCOSE STORAGE DISEASE
  HCLhttp://terminology.nmdp.org/codesystem/diseaseHAIRY CELL LEUKEMIA
  HISXhttp://terminology.nmdp.org/codesystem/diseaseHISTIOCYTOSIS-X
  HIVhttp://terminology.nmdp.org/codesystem/diseaseHIV INFECTION
  HLhttp://terminology.nmdp.org/codesystem/diseaseHODGKINS LYMPHOMA
  HPGChttp://terminology.nmdp.org/codesystem/diseaseHEMOPHAGOCYTOSIS
  HUNTERhttp://terminology.nmdp.org/codesystem/diseaseHUNTER SYNDROME (MPS-II)
  HURLERhttp://terminology.nmdp.org/codesystem/diseaseHURLER SYNDROME (MPS-IH)
  ICELLhttp://terminology.nmdp.org/codesystem/diseaseI-CELL DISEASE
  IMDNPhttp://terminology.nmdp.org/codesystem/diseaseIMMUNE DEFICIENCY + NEUTROPEN
  JCMLhttp://terminology.nmdp.org/codesystem/diseaseJUVENILE CHRONIC MYELOGENOUS
  KOSTMNhttp://terminology.nmdp.org/codesystem/diseaseKOSTMANN'S AGRANULOCYTOSIS
  KRABBEhttp://terminology.nmdp.org/codesystem/diseaseKRABBE DISEASE
  LADhttp://terminology.nmdp.org/codesystem/diseaseLEUKOCYTE ADHESION DEFICIENCY
  LNhttp://terminology.nmdp.org/codesystem/diseaseLESCH-NYHAN
  LNShttp://terminology.nmdp.org/codesystem/diseaseLESCH-NYHAN
  LYSOSThttp://terminology.nmdp.org/codesystem/diseaseLYSOSOMAL STORAGE DISEASE
  MANNOhttp://terminology.nmdp.org/codesystem/diseaseMANNOSIDOSIS
  MARLAMhttp://terminology.nmdp.org/codesystem/diseaseMAROTEAUX-LAMY (MPS-VI)
  MDShttp://terminology.nmdp.org/codesystem/diseaseMYELODYSPLASTIC DISORDER
  MFMMhttp://terminology.nmdp.org/codesystem/diseaseMYELOFIBRO MYELOID METAPLASIA
  MLDhttp://terminology.nmdp.org/codesystem/diseaseMETACHROMATIC LEUKODYSTROPHY
  MMhttp://terminology.nmdp.org/codesystem/diseaseMULTIPLE MYELOMA
  MORQUAhttp://terminology.nmdp.org/codesystem/diseaseMORQUIO A - MPS IVA
  MORQUBhttp://terminology.nmdp.org/codesystem/diseaseMORQUIO B - MPS IVB
  MORQUOhttp://terminology.nmdp.org/codesystem/diseaseMORQUIO (MPS-IV)
  MPShttp://terminology.nmdp.org/codesystem/diseaseMUCOPOLYSACCHARIDOSIS (MPS-V)
  N-Phttp://terminology.nmdp.org/codesystem/diseaseNEIMAN-PICK DISEASE
  NBhttp://terminology.nmdp.org/codesystem/diseaseNEUROBLASTOMA
  NCL1http://terminology.nmdp.org/codesystem/diseaseENZYME NCL 1
  NCL2http://terminology.nmdp.org/codesystem/diseaseENZYME NCL 2
  NEUTADhttp://terminology.nmdp.org/codesystem/diseaseNEUTROPHIL ACTIN DEFICIENCY
  NEUTDhttp://terminology.nmdp.org/codesystem/diseaseCHEDIAK-HIGASHI SYNDROME
  NHLhttp://terminology.nmdp.org/codesystem/diseaseNON-HODGKINS LYMPHOMA
  OCIDhttp://terminology.nmdp.org/codesystem/diseaseOTHR COMBINED IMMUNODEFICIENCY
  OHIShttp://terminology.nmdp.org/codesystem/diseaseOTHER HISTIOCYTIC DISORDERS
  OIEAhttp://terminology.nmdp.org/codesystem/diseaseOTH ERYTHROCYT DIFFERENTIATION
  OIIShttp://terminology.nmdp.org/codesystem/diseaseOTHER IMMUNE SYSTEM
  OIMDhttp://terminology.nmdp.org/codesystem/diseaseOTH INHER METABOLISM DISORD
  OIMDLhttp://terminology.nmdp.org/codesystem/diseaseOTH MUCOLIPIDOSES
  OIMDPhttp://terminology.nmdp.org/codesystem/diseaseOTH MUCOPOLYSACCHARIDOSIS
  OIPAhttp://terminology.nmdp.org/codesystem/diseaseOTH ABNORMALITIES OR PLATELETS
  OMDShttp://terminology.nmdp.org/codesystem/diseaseOTHER MYELODYSPLASTIC DISORDER
  OMFhttp://terminology.nmdp.org/codesystem/diseaseOTHER MYLEOFIBROSIS/MYLEOSCLER
  OMMENhttp://terminology.nmdp.org/codesystem/diseaseOMMEN'S SYNDROME
  OMShttp://terminology.nmdp.org/codesystem/diseaseOTH MALIGNANCY, SPECIFY
  ONDhttp://terminology.nmdp.org/codesystem/diseaseOTHER NON-MALIGNANT DISEASE
  OOLhttp://terminology.nmdp.org/codesystem/diseaseOTHER LEUKEMIA SPECIFY
  OPCDhttp://terminology.nmdp.org/codesystem/diseaseOTHER PLASMA CELL DISORDER
  OSCIDhttp://terminology.nmdp.org/codesystem/diseaseOTHER SCID
  OSThttp://terminology.nmdp.org/codesystem/diseaseOSTEOPETROSIS
  OTHHGPhttp://terminology.nmdp.org/codesystem/diseaseOTHER HEMOGLOBINOPATHY
  PCLhttp://terminology.nmdp.org/codesystem/diseasePLASMA CELL LEUKEMIA
  PHILLYhttp://terminology.nmdp.org/codesystem/diseasePROLYMPHOCYTIC LEUKEMIA
  PNHhttp://terminology.nmdp.org/codesystem/diseasePAROXYSMAL NOCTURNAL HEMOGLOB
  PVhttp://terminology.nmdp.org/codesystem/diseasePOLYCYTHEMIA VERA
  RAhttp://terminology.nmdp.org/codesystem/diseaseREFRACTORY ANEMIA (RA)
  RAEBhttp://terminology.nmdp.org/codesystem/diseaseREFRACT ANEMIA-EXCESS BLASTS
  RAEBIThttp://terminology.nmdp.org/codesystem/diseaseREFRACT ANEMIA-EX. BLAST TRAN
  RCAhttp://terminology.nmdp.org/codesystem/diseasePURE RED CELL APLASIA
  RCChttp://terminology.nmdp.org/codesystem/diseaseRENAL CELL CARCINOMA
  RETDGhttp://terminology.nmdp.org/codesystem/diseaseRETICULAR DYSGENESIS
  SAAhttp://terminology.nmdp.org/codesystem/diseaseSEVERE APLASTIC ANEMIA
  SANFIAhttp://terminology.nmdp.org/codesystem/diseaseSANFILIPPO A - MPS IIIA
  SANFIBhttp://terminology.nmdp.org/codesystem/diseaseSANFILIPPO B - MPS IIIB
  SANFIChttp://terminology.nmdp.org/codesystem/diseaseSANFILIPPO C - MPS IIIC
  SANFIDhttp://terminology.nmdp.org/codesystem/diseaseANFILIPPO D - MPS IIID
  SANFILhttp://terminology.nmdp.org/codesystem/diseaseSANFILLIPPO (MPS-III)
  SCAhttp://terminology.nmdp.org/codesystem/diseaseSICKLE CELL ANEMIA
  SCHEIEhttp://terminology.nmdp.org/codesystem/diseaseSCHEIE SYNDROME (MPS-IS)
  SCIDhttp://terminology.nmdp.org/codesystem/diseaseSEVERE COMBINED IMMUNODEF

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code